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BabyScreen+ newborn screening

Gene: CA12

Green List (high evidence)

CA12 (carbonic anhydrase 12)
EnsemblGeneIds (GRCh38): ENSG00000074410
EnsemblGeneIds (GRCh37): ENSG00000074410
OMIM: 603263, Gene2Phenotype
CA12 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Glu143Lys found in 4 Israeli Bedouin families. 2 other unrelated families reported with 1 missense (LoF demonstrated), 1 splice (aberrant splicing proven) and 1 fs (protein truncating, not NMD).

Excessive salt wasting in sweat can result in severe infantile hyponatraemic dehydration and hyperkalaemia.

Treatment: sodium chloride supplementation
Sources: Expert Review
Created: 25 Jan 2023, 3:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperchlorhidrosis, isolated MIM#143860

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hyperchlorhidrosis, isolated MIM#143860
Tags
treatable metabolic
OMIM
603263
Clinvar variants
Variants in CA12
Penetrance
None
Panels with this gene

History Filter Activity

25 Jan 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ca12 has been classified as Green List (High Evidence).

25 Jan 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ca12 has been classified as Green List (High Evidence).

25 Jan 2023, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CA12 was added gene: CA12 was added to gNBS. Sources: Expert Review treatable, metabolic tags were added to gene: CA12. Mode of inheritance for gene: CA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA12 were set to Hyperchlorhidrosis, isolated MIM#143860 Review for gene: CA12 was set to GREEN